Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154956960del , CM000685.2:g.154956960del | GRCh38 |
| NC_000023.10:g.154185235del , CM000685.1:g.154185235del | GRCh37 |
| NC_000023.9:g.153838429del | NCBI36 |
| NG_011403.1:g.70765del | |
| NG_011403.2:g.70765del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.1750del MANE Select | ENSP00000353393.4:p.Gln584ArgfsTer2 | |
| ENST00000647125.1:c.*1626del | ENSP00000496062.1:n.*1626del | |
| ENST00000360256.8:c.1750del | ENSP00000353393.4:p.Gln584ArgfsTer2 | |
| NM_000132.3:c.1750del | NP_000123.1:p.Gln584ArgfsTer2 | |
| XM_011531126.1:c.1645del | XP_011529428.1:p.Gln549ArgfsTer2 | |
| NM_000132.4:c.1750del MANE Select | NP_000123.1:p.Gln584ArgfsTer2 |